A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome

Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsi...

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Detalles Bibliográficos
Autores principales: Chan, Cassie, Emery, Lucy, Maltese, Caroline, Kumar, Ashutosh, Aliu, Ermal, Naik, Sunil, Paul, Dustin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685742/
https://www.ncbi.nlm.nih.gov/pubmed/38034490
http://dx.doi.org/10.1177/2329048X231216432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10685742/
https://www.ncbi.nlm.nih.gov/pubmed/38034490
http://dx.doi.org/10.1177/2329048X231216432

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